TY - JOUR
T1 - Mutation screening and identification of a sequence variation in the human ob gene coding region
AU - Considine, Robert V.
AU - Considine, Eileen L.
AU - Williams, Charlene J.
AU - Nyce, Mark R.
AU - Zhang, Peili
AU - Opentanova, Irina
AU - Ohannesian, Joanna P.
AU - Kolaczynski, Jerzy W.
AU - Bauer, Thomas L.
AU - Moore, John H.
AU - Caro, Jose F.
N1 - Funding Information:
This work was supported in part by Grant R01 DK45592 from the National Institutes of Health and a grant from the Margaret Q. Landenberger Foundation.
PY - 1996/3/27
Y1 - 1996/3/27
N2 - In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.
AB - In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.
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U2 - 10.1006/bbrc.1996.0473
DO - 10.1006/bbrc.1996.0473
M3 - Article
C2 - 8607834
AN - SCOPUS:0029893230
SN - 0006-291X
VL - 220
SP - 735
EP - 739
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 3
ER -